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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN2
(P157L +1 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GUncertain significance
CLCN2, LOC129938055
(L21fs)
Duplication
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(R593* +2 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+1 more
GPathogenic
CLCN2
(E646* +2 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GLikely pathogenic
CLCN2
(P417fs +1 more)
Deletion
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(S675L +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GUncertain significance
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(synonymous variant)
Familial hyperaldosteronism type II
+3 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
CLCN2
(A501T +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CLCN2
(Y564H +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GUncertain significance
CLCN2
(R581Q +2 more)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+4 more
GUncertain significance
CLCN2
(R572H +2 more)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+3 more
GUncertain significance
CLCN2
(T361M +1 more)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+3 more
GUncertain significance
CLCN2
(R852H +3 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+4 more
GUncertain significance
CLCN2
(P52S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CLCN2
(L831V +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+2 more
GUncertain significance
CLCN2
(V490L +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+4 more
GUncertain significance
CLCN2
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GLikely benign
CLCN2
(L179fs +1 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CLCN2
(A462V +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+4 more
GUncertain significance
CLCN2
Single nucleotide variant
(splice donor variant)
Familial hyperaldosteronism type II
+3 more
GLikely pathogenic
CLCN2
(R609T +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GLikely benign
CLCN2
(I329fs +1 more)
Deletion
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
Single nucleotide variant
(splice acceptor variant +1 more)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(L196P +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(synonymous variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GLikely benign
CLCN2
(P337A +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CLCN2
Single nucleotide variant
(synonymous variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(synonymous variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(synonymous variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GBenign
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GBenign/Likely benign
CLCN2
(R172Q +1 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+2 more
GPathogenic
CLCN2
Duplication
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GBenign/Likely benign
CLCN2
(Q796* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CLCN2
(R653* +2 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(D599N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLCN2
(G503R +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(E475fs +1 more)
Deletion
(frameshift variant +1 more)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(R471H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
CLCN2
(G466E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN2
(L391fs +1 more)
Deletion
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(G382fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CLCN2
(S331fs +1 more)
Indel
(frameshift variant)
CLCN2-related disorder
GPathogenic
CLCN2
(V339L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CLCN2
(R309* +1 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(G98R)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
Deletion
(splice acceptor variant +1 more)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(A760V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CLCN2
(S758N +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(R747H +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CLCN2
(R725W +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+1 more
GBenign/Likely benign
CLCN2
(E718D +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
CLCN2
(R688Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CLCN2
(T668S +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CLCN2
(R646Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
CLCN2
(R644C +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
CLCN2
(G199A +1 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(F82L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLCN2
(R73H)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+2 more
GConflicting classifications of pathogenicity
CLCN2
(R68H)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CLCN2
(P48R)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CLCN2
(G44R)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(R233fs +1 more)
Duplication
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(A500V +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
Deletion
(inframe_deletion)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(W570* +2 more)
Single nucleotide variant
(nonsense)
CLCN2-related disorder
+4 more
GPathogenic/Likely pathogenic
CLCN2
(R577Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CLCN2
(R235Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CLCN2
(G715E +2 more)
Single nucleotide variant
(missense variant)
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2
GUncertain significance
CLCN2
Deletion
(intron variant)
not provided
GLikely benign
CLCN2
(M156fs +1 more)
Duplication
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+1 more
GConflicting classifications of pathogenicity
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